A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637970



Internal ID6678069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12698561..12715533hg38UCSC Ensembl
Innerchr16:12698561..12715533hg38UCSC Ensembl
Outerchr16:12698061..12716033hg38UCSC Ensembl
chr16:12792418..12809390hg19UCSC Ensembl
Innerchr16:12792418..12809390hg19UCSC Ensembl
Outerchr16:12791918..12809890hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3816973
hg1916973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv479e214
Supporting Variantsessv15377508
SamplesHG01976
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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